results from ' x-rays

[Guest guest]

Dear Connie,

First I want to know how to attach images so that you can see ' and what exactly is going on.

Looking at the picture you sent me: the rings around two "holes" that you see a the bottom (the obturator foramens) are not closed.

The report says "the medial aspect of the inferior rami is not ossified". There is bone below the acetabulums. The anomalies are more towards the center.

If you go to this link http://home.comcast.net/~wnor/pelvis.htm , look at the second image. Part of the ischial tuberisities, the ischiopubic rami, and pubic symphisis are missing.

No urogenital issues in ' case. No cognitive problems either. He is starting Kinder but is at the level of a 1st grader. He spoke at age 3 and 1 month, but was released from speech at 4.5 y.o. because he was talking at the level of a 6.5 year old. I tell you all this because I just found out today that the fact he is mentally OK, rules out some of the lysosomal diseases. Still, we will check for most of them.

We saw the local geneticist. The idea was to get copies of the results for the exams she already did 1-2 years ago and move on to see another geneticist. Well... she decided to order some exams that were pending. Back then, Quest Lab messed everything up saying they could do the exams locally when the blood had to be sent to 3 different cities. Cigna denied coverage and the geneticist didn't want to fight with the insurance. She instead offered to have the pending exams done during one of the hospitalizations for the spine and bill for them as part of the hospital stay. The thing is that received transfusions most of the time, so we were not able to do the exams.

The good news is that we checked coverage today and this time they say the exams are covered 100%. We will do the exams on Tuesday; could not do them today because of the long weekend. I think that even if we move on to see someone else, the more results we have, the better.

We also met with the chief of radiology at Miami Children's. He thinks the pain in the knee is not related to the hip. He thinks that area does not bare weight. I am not so sure. I still need to hear it from a hip specialist. The other favorable thing he said is that maybe the structure is there as cartilage and it may ossify later. Late ossification could be part of a syndrome (considering all the other hypoplastic bones in the spine and falangi), but it could also be something isolated (I think I have heard this 1000 times by now). But he has seen it in other children with the same age that do not have any other anomalies.

Has anyone heard about the hip specialists at s Hopkins? Connie, what about the one you see? Would you give me his name? Was he the one who did 's surgery?

Thank you Connie. Thanks to , Stephany, and Laurie too.

Laimi

From: conni60640@... <conni60640@...>Subject: Re: [CongenitalScoliosisSupport] results from ' x-raysCongenitalScoliosisSupport Date: Friday, September 3, 2010, 12:22 AM

In a message dated 9/2/2010 12:33:46 P.M. Eastern Daylight Time, congenitalkyphosis@... writes:

We just found out that does not have the front of the pelvis fused. It actually didn't form! No comments about no doctor noticing it during these 5 years and after so many x-rays. I actually asked for the radiologist's report and bang! We had an awful day yesterday after reading that report.

--- Louis read that there are a bunch of nerves in that area and in ' case, they are not protected by any bone structure.

Guys, can walk because the joints with the femurs are completely formed and normal, but only a few centimeters towards the center and you find nothing... you would have to see it. It is scary.

If you have a good geneticist and/or a hip orthopedist, please, send me names. It doesn't matter where they are. We will go. Thank you for reading and being there.

I'm trying to picture what you are saying, but it's kinda hard... here's a picture of normal pelvic anatomy for visualizing...

Do you mean he has no bones at all below there the femurs attach at the acetabulum show above? No ischium and bones below? Or are the bones not meeting and fusing in the middle like usual? What exactly did the report say? Symphyseal separation? (other possible terms - separation of the pubic symphysis, diastasis pubis symphysis, etc.) Here's one article: http://www.ajronline.org/cgi/reprint/103/1/179.pdf

I know has this, probably as a result of his bony spine anomalies from his caudal regression and his severe urogenital anomalies, it seems to go hand in hand with uro issues. His isn't too bad, probably about 1-1.5cm separation, and it's never bothered anything or even been fussed over by the docs... You can see it on his spine page on the CT scan on our website link below... Did have any uro issues at birth or does he just deal with scoliosis?

Here's a picture of a fairly wide case, much worse than what we deal with...

(full article at http://www.orthosupersite.com/view.aspx?rid=25366) Doubt has this same syndrome, it is associated with orofacial, hand, and cognitive problems... But you can see that this girl was seven, had full range of motion in hips, could walk, etc. It's not something they "fix", but the wide legged gait did give her some leg issues, but she wasn't in pain like .

If it's something different, what terms did the radiological report use? Hoping you can get to the bottom of this! Our ortho is a great hip doc, but it would depend on what the actual diagnosis is to see if it's something he would treat... We go to the International Center for Limb Lengthening in Baltimore for 's leg length discrepancy, and they've called our ortho down there to assist with the super-hip surgeries they do for kids with complex leg/hip issues. He's written a lot about Perthe's disease also, another hip issue...

ConnieMom to Sara 18, Nick 12 (GI issues, megacolon), and 10(CRS/VACTERLS incl. tethered spinal cord (repaired 9/00, 8/06) perineal fistula imperforate anus (repaired 5/00, managed with daily Exlax), single kidney (being treated with ACE inhibitor Enalapril to protect it), PDA (closed on its own), malformed pelvis and hemisacrum, long segment lumbosacral levoscoliosis with hemivertebrae (spinal fusion T11-sacrum 8/06), extra left rib, genital anomalies with hypospadius (repairs 4/00, 9/00,11/00, 5/01,12/01,12/03), hypoplastic left leg with clubfoot (repaired 5/01) tibial torsion and 4.5cm length discrepancy - wears AFO and shoelift, SUA, GI reflux, DGE/gastroparesis (managed with periactin), mild swallowing dysphagia, and the most beautiful smile ever)conni60640@... Our website - 's VACTERL journey: http://members.tripod.com/conni60640-ivil/VACTERL/VATER support VACTERLNetwork/TC support group LMC-TCS/Congenital scoliosis support group CongenitalScoliosisSupport/Anorectal malformations support - The Pull-Thru Network http://www.pullthrunetwork.org/index.php S. Jersey